Incidental Mutation 'IGL01138:F13b'
| ID |
50338 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
F13b
|
| Ensembl Gene |
ENSMUSG00000026368 |
| Gene Name |
coagulation factor XIII, beta subunit |
| Synonyms |
Cf-13b, Cf13b |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01138
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
139429440-139451490 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139444950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 533
(N533K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027615]
|
| AlphaFold |
Q07968 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027615
AA Change: N533K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: N533K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CCP
|
26 |
88 |
1.26e-7 |
SMART |
|
CCP
|
92 |
147 |
2.11e-9 |
SMART |
|
CCP
|
154 |
209 |
9.83e-10 |
SMART |
|
CCP
|
214 |
268 |
7.62e-16 |
SMART |
|
CCP
|
275 |
328 |
8.62e-15 |
SMART |
|
CCP
|
337 |
390 |
4.62e-15 |
SMART |
|
CCP
|
397 |
451 |
3.5e-15 |
SMART |
|
Blast:CCP
|
455 |
516 |
1e-28 |
BLAST |
|
CCP
|
525 |
579 |
2.44e-14 |
SMART |
|
Blast:CCP
|
583 |
647 |
1e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141842
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes subunit B of the coagulation factor XIII that catalyzes the final step of the blood coagulation pathway. The encoded protein associates with subunit A to form a heterotetrameric protein that circulates in the plasma. During the blood coagulation process, thrombin-mediated proteolytic cleavage of the subunit A results in the dissociation of the encoded protein from the heterotetramer. Male mice lacking the encoded protein exhibit mild fibrosis together with hemosiderin deposits in the heart. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null mutation display increased bleeding time. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
G |
13: 61,002,673 (GRCm39) |
V27A |
probably benign |
Het |
| Abcg5 |
T |
A |
17: 84,972,275 (GRCm39) |
R499S |
possibly damaging |
Het |
| Adamts13 |
T |
C |
2: 26,873,054 (GRCm39) |
S341P |
probably damaging |
Het |
| Adgrg1 |
T |
A |
8: 95,730,085 (GRCm39) |
C96S |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 64,932,275 (GRCm39) |
F215S |
probably damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,020,039 (GRCm39) |
F400L |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,977,110 (GRCm39) |
E384G |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,585,335 (GRCm39) |
D1314G |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,735,232 (GRCm39) |
I806F |
probably damaging |
Het |
| Coro1c |
G |
A |
5: 113,990,222 (GRCm39) |
|
probably benign |
Het |
| Dnmt3b |
A |
T |
2: 153,503,361 (GRCm39) |
D4V |
probably benign |
Het |
| Ermn |
G |
T |
2: 57,942,707 (GRCm39) |
L8M |
possibly damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,203,657 (GRCm39) |
V93A |
possibly damaging |
Het |
| Gpr107 |
T |
A |
2: 31,062,028 (GRCm39) |
L152Q |
probably benign |
Het |
| Guca1a |
C |
A |
17: 47,711,309 (GRCm39) |
E12D |
probably damaging |
Het |
| Igtp |
A |
G |
11: 58,096,970 (GRCm39) |
N47S |
possibly damaging |
Het |
| Lratd2 |
T |
A |
15: 60,694,967 (GRCm39) |
I260F |
probably damaging |
Het |
| Lrrc8e |
A |
G |
8: 4,284,084 (GRCm39) |
N103S |
probably damaging |
Het |
| Lsmem1 |
A |
G |
12: 40,230,698 (GRCm39) |
L68P |
probably damaging |
Het |
| Maml3 |
A |
G |
3: 51,597,979 (GRCm39) |
S902P |
possibly damaging |
Het |
| Mkln1 |
A |
T |
6: 31,409,925 (GRCm39) |
N188Y |
probably damaging |
Het |
| Mlxip |
C |
T |
5: 123,588,219 (GRCm39) |
R771W |
probably damaging |
Het |
| Myf6 |
T |
C |
10: 107,330,259 (GRCm39) |
R103G |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,314,467 (GRCm39) |
I481K |
probably damaging |
Het |
| Nrap |
T |
A |
19: 56,343,970 (GRCm39) |
S645C |
probably damaging |
Het |
| Nup205 |
G |
T |
6: 35,185,019 (GRCm39) |
E813* |
probably null |
Het |
| Or13c7c |
A |
G |
4: 43,835,617 (GRCm39) |
L291P |
probably damaging |
Het |
| Plekhg5 |
C |
T |
4: 152,191,435 (GRCm39) |
R410W |
probably damaging |
Het |
| Pnma8b |
C |
A |
7: 16,679,088 (GRCm39) |
T24K |
unknown |
Het |
| Polq |
A |
T |
16: 36,866,231 (GRCm39) |
Y476F |
possibly damaging |
Het |
| Prkd2 |
T |
C |
7: 16,582,736 (GRCm39) |
S200P |
probably damaging |
Het |
| Rif1 |
C |
A |
2: 52,001,534 (GRCm39) |
L1663I |
probably damaging |
Het |
| Serpina5 |
A |
G |
12: 104,070,003 (GRCm39) |
Y300C |
possibly damaging |
Het |
| Shroom4 |
T |
C |
X: 6,497,257 (GRCm39) |
S806P |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,472,085 (GRCm39) |
V290A |
probably damaging |
Het |
| Slc25a47 |
C |
T |
12: 108,821,948 (GRCm39) |
R246C |
probably damaging |
Het |
| Slc9a6 |
A |
G |
X: 55,668,791 (GRCm39) |
D199G |
probably damaging |
Het |
| Smarca5 |
T |
A |
8: 81,427,705 (GRCm39) |
K1048M |
possibly damaging |
Het |
| Sos2 |
C |
T |
12: 69,663,623 (GRCm39) |
|
probably benign |
Het |
| Trpm5 |
T |
A |
7: 142,628,306 (GRCm39) |
M990L |
probably benign |
Het |
| Vmn2r99 |
A |
T |
17: 19,602,885 (GRCm39) |
T547S |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,446,916 (GRCm39) |
|
probably benign |
Het |
| Zfp994 |
G |
A |
17: 22,421,649 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in F13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00436:F13b
|
APN |
1 |
139,438,325 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00937:F13b
|
APN |
1 |
139,445,098 (GRCm39) |
splice site |
probably benign |
|
|
IGL01319:F13b
|
APN |
1 |
139,434,531 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01328:F13b
|
APN |
1 |
139,435,820 (GRCm39) |
splice site |
probably benign |
|
|
IGL01621:F13b
|
APN |
1 |
139,431,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01843:F13b
|
APN |
1 |
139,444,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02153:F13b
|
APN |
1 |
139,444,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02192:F13b
|
APN |
1 |
139,445,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02555:F13b
|
APN |
1 |
139,444,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03036:F13b
|
APN |
1 |
139,435,853 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03185:F13b
|
APN |
1 |
139,444,124 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03303:F13b
|
APN |
1 |
139,440,774 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03335:F13b
|
APN |
1 |
139,450,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03371:F13b
|
APN |
1 |
139,434,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0139:F13b
|
UTSW |
1 |
139,435,941 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0157:F13b
|
UTSW |
1 |
139,431,585 (GRCm39) |
missense |
probably benign |
|
|
R0381:F13b
|
UTSW |
1 |
139,438,597 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0492:F13b
|
UTSW |
1 |
139,450,297 (GRCm39) |
splice site |
probably null |
|
|
R0589:F13b
|
UTSW |
1 |
139,434,671 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1462:F13b
|
UTSW |
1 |
139,435,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:F13b
|
UTSW |
1 |
139,435,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1515:F13b
|
UTSW |
1 |
139,438,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:F13b
|
UTSW |
1 |
139,438,672 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2047:F13b
|
UTSW |
1 |
139,435,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2218:F13b
|
UTSW |
1 |
139,434,582 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2878:F13b
|
UTSW |
1 |
139,429,485 (GRCm39) |
start codon destroyed |
probably null |
|
|
R3032:F13b
|
UTSW |
1 |
139,445,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:F13b
|
UTSW |
1 |
139,429,508 (GRCm39) |
missense |
unknown |
|
|
R4079:F13b
|
UTSW |
1 |
139,429,508 (GRCm39) |
missense |
unknown |
|
|
R4208:F13b
|
UTSW |
1 |
139,444,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4350:F13b
|
UTSW |
1 |
139,444,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4674:F13b
|
UTSW |
1 |
139,429,542 (GRCm39) |
missense |
unknown |
|
|
R4675:F13b
|
UTSW |
1 |
139,429,542 (GRCm39) |
missense |
unknown |
|
|
R4972:F13b
|
UTSW |
1 |
139,438,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5212:F13b
|
UTSW |
1 |
139,440,725 (GRCm39) |
missense |
probably benign |
|
|
R5343:F13b
|
UTSW |
1 |
139,438,282 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5503:F13b
|
UTSW |
1 |
139,450,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5984:F13b
|
UTSW |
1 |
139,435,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7012:F13b
|
UTSW |
1 |
139,444,096 (GRCm39) |
missense |
probably benign |
|
|
R7155:F13b
|
UTSW |
1 |
139,435,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:F13b
|
UTSW |
1 |
139,444,227 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7478:F13b
|
UTSW |
1 |
139,435,433 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7779:F13b
|
UTSW |
1 |
139,444,124 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7960:F13b
|
UTSW |
1 |
139,431,509 (GRCm39) |
nonsense |
probably null |
|
|
R8007:F13b
|
UTSW |
1 |
139,434,680 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8043:F13b
|
UTSW |
1 |
139,450,186 (GRCm39) |
missense |
probably benign |
|
|
R8281:F13b
|
UTSW |
1 |
139,438,689 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9034:F13b
|
UTSW |
1 |
139,435,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:F13b
|
UTSW |
1 |
139,435,940 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Posted On |
2013-06-21 |
Incidental Mutation